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About Russell and Rickets Disease

Hi I’m Russell Blowers; I was born in August 1970 and inherited X – Linked Hypophosphatemic Rickets from my now deceased mother.

X – Linked Hypophosphatemic Rickets is a reasonably rare disease which stops me from absorbing vitamin D and causes my kidneys to lose phosphate, this results in many skeletal problems as my bones grow abnormally and the long bones of the extremities (Tibia, Femur, Radius and Ulna) become bowed. Abnormal parietal flattening and frontal bossing occur in the skull. The cartilaginous attachments of the ribs become prominent. Spinal curvature, muscle pain, profuse sweating and general tenderness of the body are all signs and symptoms that are common with Rickets.

I had my first corrective surgery aged 2 on my Tibia and Femur in both legs and had this repeated at ages 10 and 15. Since then I have required surgery on my nasal passages twice and have required extensive work done on my jaw and teeth, all due to my rickets. My condition has also directly affected my breathing and hearing.

Ten months ago I started experiencing excessive back pain and 3 months later I was informed the facet joints in my vertebrae had become deformed due to my Rickets and the bone was squashing my nerves running out of the spinal cord. Due to this I am currently experiencing extensive pins and needles in both legs and feet and occasionally in my arms.

On the 11 of May I will undergo the first of three operations to help fix this problem. The surgeons will make an incision to access my lumber spine, separate my Spinous Process from the vertebrae body, move the spinal cord to the side and then clean out the Facet Joint (which is where the nerves run off through to the rest of the body). Once all of the Facet Joints have been cleaned out they will then replace the spinal cord, re-attach the Spinous Process and stitch me up. Once this procedure has been completed they will allow my body some recovery time before they repeat the procedure on my cervical and thoracic spines. It is expected to be completed within a two year time period.

The first procedure is designed to relieve the constant lumbar spine and leg nerve pain I am currently experiencing. I will then undergo several months of recovery and physio therapy.